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[PMID]: 29511368
[Au] Autor:Fisher A; Fisher L; Srikusalanukul W; Smith PN
[Ad] Address:Department of Geriatric Medicine, The Canberra Hospital, Canberra, ACT Health, Canberra, Australia.
[Ti] Title:Bone Turnover Status: Classification Model and Clinical Implications.
[So] Source:Int J Med Sci;15(4):323-338, 2018.
[Is] ISSN:1449-1907
[Cp] Country of publication:Australia
[La] Language:eng
[Ab] Abstract:To develop a practical model for classification bone turnover status and evaluate its clinical usefulness. Our classification of bone turnover status is based on internationally recommended biomarkers of both bone formation (N-terminal propeptide of type1 procollagen, P1NP) and bone resorption (beta C-terminal cross-linked telopeptide of type I collagen, bCTX), using the cutoffs proposed as therapeutic targets. The relationships between turnover subtypes and clinical characteristic were assessed in1223 hospitalised orthogeriatric patients (846 women, 377 men; mean age 78.1±9.50 years): 451(36.9%) subjects with hip fracture (HF), 396(32.4%) with other non-vertebral (non-HF) fractures (HF) and 376 (30.7%) patients without fractures. Six subtypes of bone turnover status were identified: 1 - normal turnover (P1NP>32 µg/L, bCTX≤0.250 µg/L and P1NP/bCTX>100.0[(median value]); 2- low bone formation (P1NP ≤32 µg/L), normal bone resorption (bCTX≤0.250 µg/L) and P1NP/bCTX>100.0 (subtype2A) or P1NP/bCTX<100.0 (subtype 2B); 3- low bone formation, high bone resorption (bCTX>0.250 µg/L) and P1NP/bCTX<100.0; 4- high bone turnover (both markers elevated ) and P1NP/bCTX>100.0 (subtype 4A) or P1NP/bCTX<100.0 (subtype 4B). Compared to subtypes 1 and 2A, subtype 2B was strongly associated with nonvertebral fractures (odds ratio [OR] 2.0), especially HF (OR 3.2), age>75 years and hyperparathyroidism. Hypoalbuminaemia and not using osteoporotic therapy were two independent indicators common for subtypes 3, 4A and 4B; these three subtypes were associated with in-hospital mortality. Subtype 3 was associated with fractures (OR 1.7, for HF OR 2.4), age>75 years, chronic heart failure (CHF), anaemia, and history of malignancy, and predicted post-operative myocardial injury, high inflammatory response and length of hospital stay (LOS) above10 days. Subtype 4A was associated with chronic kidney disease (CKD), anaemia, history of malignancy and walking aids use and predicted LOS>20 days, but was not discriminative for fractures. Subtype 4B was associated with fractures (OR 2.1, for HF OR 2.5), age>75 years, CKD and indicated risks of myocardial injury, high inflammatory response and LOS>10 days. We proposed a classification model of bone turnover status and demonstrated that in orthogeriatric patients altered subtypes are closely related to presence of nonvertebral fractures, comorbidities and poorer in-hospital outcomes. However, further research is needed to establish optimal cut points of various biomarkers and improve the classification model.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Process
[do] DOI:10.7150/ijms.22747

  2 / 25767 MEDLINE  
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[PMID]: 29523679
[Au] Autor:Lau WL; Obi Y; Kalantar-Zadeh K
[Ad] Address:Harold Simmons Center for Kidney Disease Research and Epidemiology, University of California, Irvine, California.
[Ti] Title:Parathyroidectomy in the Management of Secondary Hyperparathyroidism.
[So] Source:Clin J Am Soc Nephrol;, 2018 Mar 09.
[Is] ISSN:1555-905X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Secondary hyperparathyroidism develops in CKD due to a combination of vitamin D deficiency, hypocalcemia, and hyperphosphatemia, and it exists in nearly all patients at the time of dialysis initiation. There is insufficient data on whether to prefer vitamin D analogs compared with calcimimetics, but the available evidence suggests advantages with combination therapy. Calcium derangements, patient adherence, side effects, and cost limit the use of these agents. When parathyroid hormone level persists >800 pg/ml for >6 months, despite exhaustive medical interventions, monoclonal proliferation with nodular hyperplasia is likely present along with decreased expression of vitamin D and calcium-sensing receptors. Hence, surgical parathyroidectomy should be considered, especially if concomitant disorders exist, such as persistent hypercalcemia or hyperphosphatemia, tissue or vascular calcification including calciphylaxis, and/or worsening osteodystrophy. Parathyroidectomy is associated with 15%-57% greater survival in patients on dialysis, and it also improves hypercalcemia, hyperphosphatemia, tissue calcification, bone mineral density, and health-related quality of life. The parathyroidectomy rate in the United States declined to approximately seven per 1000 dialysis patient-years between 2002 and 2011 despite an increase in average parathyroid hormone levels, reflecting calcimimetics introduction and uncertainty regarding optimal parathyroid hormone targets. Hospitalization rates are 39% higher in the first postoperative year. Hungry bone syndrome occurs in approximately 25% of patients on dialysis, and profound hypocalcemia requires high doses of oral and intravenous calcium along with calcitriol supplementation. Total parathyroidectomy with autotransplantation carries a higher risk of permanent hypocalcemia, whereas risk of hyperparathyroidism recurrence is higher with subtotal parathyroidectomy. Given favorable long-term outcomes from observational parathyroidectomy cohorts, despite surgical risk and postoperative challenges, it is reasonable to consider parathyroidectomy in more patients with medically refractory secondary hyperparathyroidism.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  3 / 25767 MEDLINE  
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[PMID]: 29522553
[Au] Autor:Chen CH; Lin CL; Jeng LB
[Ad] Address:Digestive Disease Center, Show-Chwan Memorial Hospital, Changhua, Taiwan.
[Ti] Title:Association between chronic pancreatitis and urolithiasis: A population-based cohort study.
[So] Source:PLoS One;13(3):e0194019, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: Chronic pancreatitis (CP) can cause fat or bile acid malabsorption due to exocrine insufficiency. Fat or bile acid malabsorption has been reported to increase the risk of urolithiasis through increased intestinal oxalate absorption. However, no studies have reported an association between CP and urolithiasis. METHODS: We identified 15,848 patients (age: ≥20 years) diagnosed as having CP between 2000 and 2010 from the National Health Insurance Research Database as the study cohort. Beneficiaries without a history of CP were randomly selected and propensity-matched with the study cohort in a 1:4 ratio according to age; sex; comorbidities of hyperlipidemia, diabetes, obesity, hypertension, chronic obstructive pulmonary disease, alcohol-related illness, stroke, and coronary artery disease; and the index date. The prevalence of inflammatory bowel disease (0.44%), hyperparathyroidism (0.10%), or end stage renal disease (1.55%) in CP patients was low, but these comorbidities were also considered in the analysis. All patients were followed until the end of 2011 or withdrawal from the National Health Insurance program to determine the incidence of urolithiasis. RESULTS: The cumulative incidence of urolithiasis was higher in the CP cohort than that in the non-CP cohort (log-rank test, P < 0.001) with a 1.89-fold risk of urolithiasis (95% confidence interval [CI] = 1.74-2.06). The prevalence of CP was higher in men (81.9%) and in patients younger than 49 years (63.5%; mean age: 48.5 ± 15.3 years). CP was associated with the development of urolithiasis in each age group (≤49 years: aHR = 2.00, 95% CI = 1.81-2.22; 50-64 years: aHR = 1.71, 95% CI = 1.40-2.09; ≥65 years: aHR = 1.54, 95% CI = 1.20-1.98) and each sex (women: aHR = 2.10, 95% CI = 1.67-2.66; men; aHR = 1.86, 95% CI = 1.70-2.04). Among the patients without comorbidities, the rate of urolithiasis increased from 2.93/1,000 person-years in non-CP patients to 8.28/1,000 person-years in CP patients. Among the patients with comorbidities, the rate of urolithiasis increased from 6.12/1,000 person-years in non-CP patients to 10.9/1,000 person-years in CP patients. The contribution of CP to the relative risk of urolithiasis was greater in patients without comorbidities (without comorbidities: aHR = 2.81, 95% CI = 2.30-3.44) than in those with comorbidities (aHR = 1.76, 95% CI = 1.61-1.94). CONCLUSION: CP is associated with urolithiasis in this population-based cohort study. The contribution of CP to the relative risk of urolithiasis was even greater in patients with a lower risk of urolithiasis, such as those without other comorbidities. Our findings warrant a survey and education on urolithiasis for patients with CP.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0194019

  4 / 25767 MEDLINE  
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[PMID]: 29381879
[Au] Autor:Zhang L; Liu X; Li H
[Ad] Address:Department of Orthopedics, Yangling Demonstration Zone Hospital, Xianyang, Shaanxi, P. R. China.
[Ti] Title:Long-Term Skeletal Outcomes of Primary Hyperparathyroidism Patients After Treatment with Parathyroidectomy: A Systematic Review and Meta-Analysis.
[So] Source:Horm Metab Res;50(3):242-249, 2018 Mar.
[Is] ISSN:1439-4286
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:The aim of the study was to assess and define the association between parathyroidectomy (PTX) and long-term skeletal outcomes in primary hyperparathyroidism (PHPT) patients. PubMed, EMBASE, Web of Science, and Cochrane Central Register of Controlled Trials were systematically searched up to June 31, 2017, without language restriction. Any study comparing skeletal outcomes [fracture risk or bone mineral density (BMD)] of PHPT patients after more than 12 months of PTX treatment versus non-PTX treatment was included. Pooled relative risks or odds ratios with 95% confidence intervals and weighted mean difference were calculated using random-effects models irrespective of statistical heterogeneity assessed by I statistic. Finally, 5 randomized controlled trials (RCTs, n=584) and 10 cohort studies (CSs, n=12202) were included. CSs suggest PTX treatment versus non-PTX treatment is significantly associated with 36% reduction in the risk of fracture, with no heterogeneity, and an increase in the lumbar spine change by 0.55 WMD, with no heterogeneity. RCTs indicate PTX treatment versus non-PTX treatment is significantly associated with BMD change of 0.97 WMD at the lumbar spine with substantial heterogeneity, and 1.23 WMD at the femoral neck with no heterogeneity. The existing CSs indicate PTX-treatment versus non-PTX-treatment might reduce the risk of fracture in PHPT patients. The existing RCTs do not provide sufficient or precise evidence that PTX-treatment affects the fracture risk of PHPT patients, but offer data that subsets of patients who could potentially benefit from PTX-treatment can be identified.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process
[do] DOI:10.1055/s-0043-125334

  5 / 25767 MEDLINE  
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[PMID]: 29196929
[Au] Autor:Ding Y; Wang H; Zou Q; Jin Y; Zhang Z; Huang J
[Ad] Address:Department of General Surgery, Fudan University Huashan Hospital, Shanghai, China.
[Ti] Title:Factors associated with calcium requirements after parathyroidectomy in chronic kidney disease patients.
[So] Source:Int Urol Nephrol;50(3):535-540, 2018 Mar.
[Is] ISSN:1573-2584
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Renal hyperparathyroidism is a common complication of chronic kidney disease (CKD). Parathyroidectomy (PTX) for these patients continues to be a valuable option in the era of calcimimetics. Postoperative hypocalcemia is common after surgery. The aim of this study was to identify clinical factors to define postoperative calcium requirements. METHODS: From February 2013 to May 2017, 68 patients with chronic kidney disease 5 (CKD5) who underwent PTX were reviewed. We collected clinical and laboratory data preoperatively and calculated the total calcium requirement in a week after surgery. Univariate and multiple analyses were performed to study whether these clinical and laboratory factors were associated with calcium requirement. RESULTS: Univariate analysis showed that preoperative alkaline phosphatase (ALP), calcium (Ca), parathyroid hormone and hemoglobin were independently associated with calcium requirement. Multivariate model showed that the preoperative ALP was the only independent factor that could predict the requirement of calcium. CONCLUSIONS: In the context of a high dCa (1.75 mmol/l) and a stable dose of calcitriol, preoperative ALP levels were significantly associated with calcium requirement in patients with CKD5 undergoing PTX.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Process
[do] DOI:10.1007/s11255-017-1759-8

  6 / 25767 MEDLINE  
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[PMID]: 29392434
[Au] Autor:Kiriakopoulos A; Petralias A; Linos D
[Ad] Address:Department of Surgery, 5th Surgical Clinic, Evgenidion Hospital, National and Kapodistrian University of Athens Medical School, Papadiamantopoulou 20 Str., 11528, Athens, Greece. andykirian@gmail.com.
[Ti] Title:Classic Primary Hyperparathyroidism Versus Normocalcemic and Normohormonal Variants: Do They Really Differ?
[So] Source:World J Surg;42(4):992-997, 2018 Apr.
[Is] ISSN:1432-2323
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Normocalcemic (NCpHPT) and normohormonal (NHpHPT) variants have been recognized primary hyperparathyroidism entities that pose serious challenges. We sought to define the differences among them in a series of surgically treated patients. PATIENTS AND METHODS: Between 2011 and 2015, 149 patients were enrolled into three groups: CpHPT (Ca > 10.2 mg/dL, PTH > 65 pg/mL), NCpHPT (normal Ca, PTH > 65 pg/mL) and NHpHPT (Ca > 10.2 mg/dL, normal PTH). Descriptive statistics and inter-group differences were computed, whereas multiple logistic/linear regression tests were used for further analysis. RESULTS: Of these patients 125 were female and 24 male, mean age 56.3 years (range 8-83). A total of 115 (77.2%) patients presented with CpHPT, 23 (15.4%) with NCpHPT and 11 (7.4%) with NHpHPT. MGD was found in 25 (16.8%) patients and SGD in 124 (83.2%); multivariate analysis failed to reveal statistically significant association of MGD with any pHPT variant (CpHPT 16.5% vs NCpHPT 21.7% vs NHpHPT 9.1%, p = 0.726). Conversely, NCpHPT patients exhibited statistically significant smaller adenoma weight (p = 0.023). Moreover, U/S in these patients had smaller positive predictive value (p = 0.278), whereas concordance between U/S and MIBI was also lower (p = 0.669). The utility of MIBI and U/S differed significantly (p < 0.001); more frequent use of U/S was observed for all groups. However, their predictive values did not differ significantly (p = 0.832). CONCLUSIONS: NCpHPT is more similar than different to CpHPT. NCpHPT constitutes the most challenging entity: it is associated with smaller adenoma weight, whereas U/S exhibited lower positive predictive value and lower concordance rate with MIBI. A trend for higher MGD presence in this group of patients was observed, though without statistical significance.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1007/s00268-018-4512-2

  7 / 25767 MEDLINE  
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[PMID]: 29517577
[Au] Autor:Andersen TB; Aleksyniene R; Boldsen SK; Gade M; Bertelsen H; Petersen LJ
[Ad] Address:Department of Nuclear Medicine.
[Ti] Title:Contrast-enhanced computed tomography does not improve the diagnostic value of parathyroid dual-phase MIBI SPECT/CT.
[So] Source:Nucl Med Commun;, 2018 Mar 06.
[Is] ISSN:1473-5628
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVE: The aim of this study was to investigate the contribution of contrast-enhanced computed tomography (CE-CT) to the localization of parathyroid adenomas compared with the dual-phase Tc-99m MIBI SPECT with low-dose CT (LD-CT). PATIENTS AND METHODS: This retrospective study included consecutive patients with primary hyperparathyroidism who underwent a preoperative dual-phase MIBI SPECT/CT followed by surgical resection. The standard of care was dual-phase MIBI SPECT/CT, acquired with LD-CT in the early phase and CE-CT in the late phase (SPECT/CE-CT). The presence and localization of positive sites were extracted from study reports. To examine the role of CE-CT, patient cases were independently re-reviewed, with the early LD-CT fused with early and late SPECT (SPECT/LD-CT). The two SPECT/CT methods were compared for sensitivity, and the positive predictive value and histopathology were used as a reference. RESULTS: In total, 138 patients were included. The investigation was positive for suspected adenomas in 124 patients using SPECT/CE-CT and in 122 patients using SPECT/LD-CT. The per-patient sensitivity was 87.5% [95% confidence interval (CI): 80.7-92.6%] for SPECT/CE-CT and was not statistically significantly different from SPECT/LD-CT (85.3%; 95% CI: 78.2-90.8%) (P=0.39). The positive predictive value was 95.2% (95% CI: 95.4-99.9%) with SPECT/CE-CT versus 100% (95% CI: 96.8-100%) with SPECT/LD-CT. For small adenomas (≤500 mg), the sensitivity was low with SPECT/CE-CT (67%) as well as with SPECT/LD-CT (64%). CONCLUSION: Late CE-CT, compared with late LD-CT, did not significantly improve the sensitivity of dual-phase Tc-99m MIBI parathyroid SPECT/CT in a population of patients with primary hyperparathyroidism. These findings were consistent regardless of the size, location, or histology of the adenomas.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1097/MNM.0000000000000818

  8 / 25767 MEDLINE  
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[PMID]: 29516131
[Au] Autor:Beheshti M; Hehenwarter L; Paymani Z; Rendl G; Imamovic L; Rettenbacher R; Tsybrovskyy O; Langsteger W; Pirich C
[Ad] Address:Department of Nuclear Medicine & Endocrinology, PET-CT Center Linz, Ordensklinikum, St. Vincent's Hospital, Linz, Austria.
[Ti] Title:F-Fluorocholine PET/CT in the assessment of primary hyperparathyroidism compared with Tc-MIBI or Tc-tetrofosmin SPECT/CT: a prospective dual-centre study in 100 patients.
[So] Source:Eur J Nucl Med Mol Imaging;, 2018 Mar 08.
[Is] ISSN:1619-7089
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:PURPOSE: In this prospective study we compared the accuracy of F-fluorocholine PET/CT with that of Tc-MIBI or Tc-tetrofosmin SPECT/CT in the preoperative detection of parathyroid adenoma in patients with primary hyperparathyroidism. We also assessed the value of semiquantitative parameters in differentiating between parathyroid hyperplasia and adenoma. METHODS: Both F-fluorocholine PET/CT and Tc-MIBI/tetrofosmin SPECT/CT were performed in 100 consecutive patients with biochemical evidence of primary hyperparathyroidism. At least one abnormal focus on either F-fluorocholine or Tc-MIBI/tetrofosmin corresponding to a parathyroid gland or ectopic parathyroid tissue was considered as a positive finding. In 76 patients with positive findings on at least one imaging modality, surgical exploration was performed within 6 months, and the results were related to histopathological findings and clinical and laboratory findings at 3-6 months as the standard of truth. In 24 patients, no surgery was performed: in 18 patients with positive imaging findings surgery was refused or considered risky, and in 6 patients imaging was negative. Therefore, data from 82 patients (76 undergoing surgery, 6 without surgery) in whom the standard of truth criteria were met, were used in the final analysis. RESULTS: All patients showed biochemical evidence of primary hyperparathyroidism with a mean serum calcium level of 2.78 ± 0.34 mmol/l and parathormone (PTH) level of 196.5 ± 236.4 pg/ml. The study results in 76 patients with verified histopathology and 3 patients with negative imaging findings were analysed. Three of six patients with negative imaging showed normalized serum PTH and calcium levels on laboratory follow-up at 3 and 6 months, and the results were considered true negative. In a patient-based analysis, the detection rate with F-fluorocholine PET/CT was 93% (76/82), but was only 61% (50/82) with Tc-MIBI/tetrofosmin SPECT/CT. In a lesion-based analysis, the sensitivity, specificity, positive predictive value, negative predictive value and overall accuracy of F-fluorocholine PET/CT in the detection of parathyroid adenoma were 93.7%, 96.0%, 90.2%, 97.4% and 95.3%, respectively, and of Tc-MIBI/tetrofosmin SPECT/CT were 60.8%, 98.5%, 94.1%, 86.3% and 87.7%, respectively. Although F-fluorocholine PET-positive adenomatous lesions showed higher SUVmax values than the hyperplastic glands (6.80 ± 3.78 vs. 4.53 ± 0.40) in the semiquantitative analysis, the difference was not significant (p = 0.236). The mean size (measured as the length of the greatest dimension) and weight of adenomas were 15.9 ± 7.6 mm (median 15 mm, range 1-40 mm) and 1.71 ± 1.86 g (median 1 g, range: 0.25-9 g), respectively. Among the analysed parameters including serum calcium and PTH and the size and weight of parathyroid adenomas, size was significantly different between patients with negative Tc-MIBI/tetrofosmin SPECT/CT and those with positive Tc-MIBI/tetrofosmin SPECT/CT (mean size 13.4 ± 7.6 mm vs. 16.9 ± 7.4 mm, respectively; p = 0.042). CONCLUSION: In this prospective study, F-fluorocholine PET/CT showed promise as a functional imaging modality, being clearly superior to Tc-MIBI/tetrofosmin SPECT/CT, especially in the detection and localization of small parathyroid adenomas in patients with primary hyperparathyroidism. SUVmax was higher in parathyroid adenomas than in hyperplasia. However, further evaluation of this modality is needed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1007/s00259-018-3980-9

  9 / 25767 MEDLINE  
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[PMID]: 29408964
[Au] Autor:Jaber T; Hyde SM; Cote GJ; Grubbs EG; Giles WH; Stevens CA; Dadu R
[Ad] Address:Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, TX.
[Ti] Title:A homozygous RET K666N genotype with an MEN2A phenotype.
[So] Source:J Clin Endocrinol Metab;, 2018 Feb 02.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: Germline RET K666N mutation has been described as a pathogenic mutation with low disease penetrance for medullary thyroid cancer (MTC) without other features of MEN2A. We describe a patient with homozygous RET K666N mutation with MTC and bilateral pheochromocytoma (PHEO). Case Description: A 59-year-old female was diagnosed with MTC after biopsy of two thyroid nodules. Coincident biochemical and radiologic testing was suspicious for bilateral PHEO, confirmed after bilateral adrenalectomy. There was no evidence for primary hyperparathyroidism (PHPT). She had a total thyroidectomy with neck dissection revealing bilateral MTC with lymph node metastases. Germline RET testing identified homozygous K666N mutations. Genetic testing of family members expectedly showed that both adult children harbor a heterozygous K666N mutation. Her 32-year-old son had an elevated calcitonin level and underwent thyroidectomy which identified MTC. Her 30-year-old daughter had a normal calcitonin level. Prophylactic thyroidectomy showed C-cell hyperplasia only. Three of seven other family members were tested and found to carry the mutation. All had normal calcitonin levels and none had biochemical evidence for PHEO or PHPT. Given the absence of PHEO in reported RET K666N families, our proband underwent genetic testing for causes of hereditary paragangliomas/PHEO. No additional mutations were identified. Conclusions: This is the first reported case of a homozygous RET K666N mutation leading to coincident MTC and PHEO. Heterozygous presentation of RET K666N mutations have low penetrance for isolated MTC. We believe that the gene dosage associated with the homozygosity of this variant contributed to the occurrence of bilateral PHEO.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1210/jc.2017-02402

  10 / 25767 MEDLINE  
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[PMID]: 29373705
[Au] Autor:Donovan Tay YK; Cusano NE; Rubin MR; Williams J; Omeragic B; Bilezikian JP
[Ad] Address:Department of Medicine, Division of Endocrinology, College of Physicians & Surgeons, Columbia University, New York, NY, USA.
[Ti] Title:Trabecular Bone Score in Obese and Non-obese Subjects with Primary Hyperparathyroidism Before and After Parathyroidectomy.
[So] Source:J Clin Endocrinol Metab;, 2018 Jan 24.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: Obesity has been shown to be unfavorable to skeletal microarchitecture when assessed by trabecular bone score (TBS). The influence of adiposity on skeletal microstructure in primary hyperparathyroidism (PHPT) has not yet been evaluated. Objective: To investigate the effect of obesity on TBS and bone mineral density (BMD) in subjects with PHPT at baseline and through 2 years after parathyroidectomy. Design: Prospective observational study. Setting: Referral center. Patients or Other Participants: 30 men and women with PHPT undergoing parathyroid surgery. Main Outcome Measures: TBS and BMD by dual-energy X-ray absorptiometry. Results: There were significant improvements in lumbar spine and femoral neck BMD in the obese (lumbar spine: +4.3 ± 4.7%, femoral neck: +3.8 ± 6.6%; p<0.05 for both) and non-obese subjects (lumbar spine: +3.8 ± 5.6, femoral neck +3.1 ± 5.0%; p<0.05 for both) but no significant change in TBS in either group at 24 months post-parathyroidectomy. Obese subjects had fully degraded TBS values compared to the non-obese subjects, whose TBS values were minimally below normal throughout the study (Baseline: 1.199 ± 0.086 vs 1.327 ± 0.099, respectively; p=0.003; 24 months: 1.181 ± 0.061 vs 1.352 ± 0.114, respectively; p=0.001), despite improvements in BMD. Conclusions: The detrimental effect of obesity on TBS, an index of bone quality, was demonstrated in subjects with PHPT. Obesity was associated with fully degraded skeletal microarchitecture as measured by TBS in PHPT, despite similar values in bone density by DXA compared to non-obese subjects. TBS values did not improve post-parathyroidectomy in either obese or non-obese subjects.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1210/jc.2017-02169


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